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Genomics starts to deliver on its promises

BMJ 2007; 335 doi: (Published 19 July 2007) Cite this as: BMJ 2007;335:121

Scientists are closer than ever to understanding the genetic basis of common diseases, thanks to the accelerating pace of genomics research, say experts from California. In 2007 alone, researchers found DNA markers for obesity, type 2 diabetes, coronary heart disease, and acute lymphoblastic leukaemia—one of the most important childhood cancers.

But it hasn't been easy or cheap. Studies looking for associations between diseases and variations in the human genome require thousands of patients and fast genotyping technology. For each study, the reagents alone cost $500 000 (£245 000; €363 000) to $1000 000. Statistics are another problem, as traditional techniques aren't robust enough to cope with the half a million or so comparisons in genome-wide research.

One ultimate goal is to assemble panels of DNA markers to use as screening tools for common diseases, they say. Another is to use the markers to guide drug development, preferably prophylactic agents for people with variants that cause disease. Both are still some way off. Finding associations is one thing, but discovering how a particular arrangement of DNA causes disease is quite another. We still know next to nothing about the functional link between recently discovered markers and their associated diseases.


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